https://doi.org/10.5812/iranjradiol.6913

New Mutation of Pelizaeus­-Merzbacher-Like Disease; A Report from Iran

authors:

avatar Parvaneh Karimzadeh 1 , * , avatar Farzad Ahmadabadi 2 , avatar Omid Aryani 3 , avatar Massoud Houshmand 4 , avatar Alireza Khatami 1

Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Ardabil University of Medical Sciences, Ardabil, Iran
Special Medical Center, Tehran, Iran
Department of Human Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran
Iranian Journal of Radiology: Vol.11, issue 2; e93639
published online: May 15, 2014
article type: Case Report
received: May 14, 2019
accepted: May 25, 2013

how to cite: Karimzadeh P, Ahmadabadi F, Aryani O, Houshmand M, Khatami A. New Mutation of Pelizaeus­-Merzbacher-Like Disease; A Report from Iran. I J Radiol. 2014;11(2):e93639. https://doi.org/10.5812/iranjradiol.6913.

Abstract

Pelizaeus­-Merzbacher-like disease (PMLD) is a hypomyelinating leukoencephalopathy disorder with a genetically heterogeneous pattern. Mutations in the GJA12/GJC2 gene cause one form of autosomal recessive Pelizaeus­-Merzbacher-like disease. Here, we report a new mutation in a ­10-month-old girl with nystagmus, psychomotor delay, hypotonicity, head nodding and dysmyelination from healthy second cousin parents. The genetic study showed a homozygote deletion as c902-918del in the exone 2. According to our study and recent reports from other Middle East countries, we suggest GJA12 gene mutations are common in this area, but we didnot find any previous report about this new mutation (c902-918Del).

References

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    The references are available in PDF file.